rs28999113

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs28999113(C;C)

Make rs28999113(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

88809834

Gene

APRT

is a	snp
is	mentioned by
dbSNP	rs28999113
dbSNP (classic)	rs28999113
ClinGen	rs28999113
ebi	rs28999113
HLI	rs28999113
Exac	rs28999113
Gnomad	rs28999113
Varsome	rs28999113
LitVar	rs28999113
Map	rs28999113
PheGenI	rs28999113
Biobank	rs28999113
1000 genomes	rs28999113
hgdp	rs28999113
ensembl	rs28999113
geneview	rs28999113
scholar	rs28999113
google	rs28999113
pharmgkb	rs28999113
gwascentral	rs28999113
openSNP	rs28999113
23andMe	rs28999113
SNPshot	rs28999113
SNPdbe	rs28999113
MSV3d	rs28999113
GWAS Ctlg	rs28999113

Max Magnitude

0

OMIM	102600
Desc	APRT DEFICIENCY, JAPANESE TYPE
Variant	0003
Related	also

ClinVar
Risk	rs28999113(C;C)
Alt	rs28999113(C;C)
Reference	Rs28999113(T;T)
Significance	Pathogenic
Disease	APRT deficiency Adenine phosphoribosyltransferase deficiency
Variation	info
Gene	APRT
CLNDBN	APRT deficiency, Japanese type Adenine phosphoribosyltransferase deficiency
Reversed	1
HGVS	NC_000016.9:g.88876242A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019958.27, RCV000033908.1,